Thursday, June 30, 2011

Syndrome Smyndrome

As I've stated before, I'm a horrible blogger. I keep up with blogging about as much as I keep up with a diet or any other kind of "great" idea I get. The reality of it is that sometimes there's just not enough time in the day to DO anything besides wake up, work, feed the boy, feed ourselves...lather, rinse, repeat. It's like Groundhog's Day.

So a few months back we got the call that our geneticist had found the genetic mutation that X has. Technically our geneticist had not "found" it but found the smart people that found it. That's a lot of "founds". So long story short our genetic counselor came across an article in a scientific journal and she thought it sounded like what X might "have". She asked the smart peeps in the Netherlands if they would run his sample and they did. Lo and behold they found the pesky little mutation that is responsible for the Bean's issues.

This all means that now we have a diagnosis and name for what he "has". A name that no one knows except Anthony and myself and our doctors. A name which I refuse to print because I have friends and family whom I love dearly but who are prone to fits of extreme Googling (you know who you are). Although very little bit can be found about the syndrome it doesn't do anyone any good to read and compare. It's not like you find out you are a diabetic and now you know you need to check your blood sugar. Syndromes are vast and people don't always present the same way with the same syndrome. What we know so far about Xavier's syndrome is nothing that we didn't already know about him. He'll need to be followed by docs but again that's nothing different than what we already knew or did without a diagnosis.

I like to think that in this whole crazy journey through parenthood and having a child with special needs we've been very realistic.

So what do we know about X and his syndrome:

Children with this sydrome have seizures (and seizures are more common than you think--you probably know someone with Epilepsy)

Children with this sydrome are developmentally delayed (we don't expect X to one day wind up President. For now we are happy with some better head control, playing on the iPad, and an affinity for all things sweet & yummy)

Children with this syndrome have a hypospadias. (Big shout out to our urologist Dr. Gearhart for some superb pee-pee fixing)

Although this is genetic it is a mutation. This means that it is not likely to reoccur in future little Byrds.